ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.3539AGA[2] (p.Lys1182del)

dbSNP: rs1555225139
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003767063 SCV000653215 uncertain significance not provided 2024-06-07 criteria provided, single submitter clinical testing This variant, c.3545_3547del, results in the deletion of 1 amino acid(s) of the POLE protein (p.Lys1182del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with POLE-related conditions. ClinVar contains an entry for this variant (Variation ID: 473601). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000709262 SCV000838693 uncertain significance Familial colorectal cancer 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020569 SCV001182065 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-23 criteria provided, single submitter clinical testing The c.3545_3547delAGA variant (also known as p.K1182del) is located in coding exon 29 of the POLE gene. This variant results from an in-frame AGA deletion at nucleotide positions 3545 to 3547. This results in the in-frame deletion of a lysine at codon 1182. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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